Down’s Syndrome

Question 1

Trisomy 21 is?

Answer 1

Down’s

Question 2

Trisomy 18 is?

Answer 2

Edwards

Question 3

Trisomy 13 is?

Answer 3

Patau

Question 4

Trisomy 21 incidence?

Answer 4

1-600 birth

Question 5

features of down’s at the head?

Answer 5

flat occiput

Question 6

features of down’s at the face?

-4

Answer 6

up slanting palpebral fissures

epicanthic folds

small low-set ears

round/flat face

Question 7

features of down’s at the mouth?

-2

Answer 7

protruding tongue

mouth open

Question 8

features of down’s at the eyes?

Answer 8

Brushfield spots in iris

Question 9

features of down’s at the hands?

-3

Answer 9

single palmar crease

short thick fingers (brachydactyly)

fingers curl in (clinodactyly)

Question 10

features of down’s at the feet?

-1

Answer 10

“sandal gap” between big and first toe

Question 11

features of down’s at the ear?

Answer 11

glue ear

struggler to hear

Question 12

features of down’s in MSK?

-3

Answer 12

short height
short neck
hypotonia
hip dysplasia

Question 13

sign of hypotonia in a down’s BABY?

Answer 13

more head lag

Question 14

features of down’s in the psych system?

-2

Answer 14

learning difficulties

Alzheimer’s by age 40

Question 15

features of down’s in the cardiac system?

-3

Answer 15

endocardial cushion defect

ventricular septal defect

secundum atrial septal defect

Question 16

features of down’s in the resp system?

Answer 16

lots of resp infections

Question 17

features of down’s in the GI system?

Answer 17

duodenal atresia

Question 18

features of down’s in the skin system?

Answer 18

eczema

Question 19

features of down’s in the MSK system?

Answer 19

hip dysplasia

Question 20

features of down’s in the haematological system?

Answer 20

leukaemia

Question 21

features of down’s in the Genitalia?

-2

Answer 21

small penis and testicle

infertility common

Question 22

which disease (starting with H) is associated with down’s?

Answer 22

Hirschsprung’s disease

Question 23

Best Screening test for down’s syndrome antenatally?

Answer 23

Combined Test

Question 24

Combined Test is composed of what?

-3

Answer 24

nuchal scan US (crl)

+ bloods (BhCG, PAPP-A)

Question 25

Down’s result on combined test? | -3

Answer 25

nuchal scan US = thick | bloods = ↑BHCG, ↓PAPP-A

Question 26

foetus has positive result on combined test antenatally. which IX will confirm the Down's once child born? positive result you are looking for?

Answer 26

Chromosome analysis - shows extra 21

Question 27

child has confirmed down's. who do you refer to? -4

Answer 27

lots of paeds follow up as they grow Refer to cardiology Refer to audiology and optometry Refer to Physio

Question 28

child has confirmed down's. what imaging do you do? -2 why?

Answer 28

echo - murmurs, defects etc. US hip - his dysplasia

Question 29

child has confirmed down's. what do you check in bloods? why?

Answer 29

TFTs Down’s assoc with hypothyroidism

Question 30

IQ score range of people with Down's?

Answer 30

IQ score 25-70

Question 31

biggest killer of down's pt?

Answer 31

Congenital heart defect

Question 32

at what age do down's pt get Alzheimer's?

Answer 32

age 40